Inborn disorder of pyridoxine metabolism

MONDO:0019237

An inherited metabolic disease that is has its basis in the disruption of pyridoxine metabolic process.

Also known as: inborn error of pyridoxine metabolic process, inborn pyridoxine metabolic process disorder, rare inborn error of pyridoxine metabolic process, disorder of pyridoxine metabolism

4 clinical trials for this condition and its sub-types, 0 tagged with Inborn disorder of pyridoxine metabolism itself.

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Where it sits in the disease tree

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Part of

↑ Inborn disorder of biogenic amine metabolism and transport (10)

Sub-types of Inborn disorder of pyridoxine metabolism

Pyridoxine-dependent epilepsy 3 trials
2 sub-types
- Epilepsy, early-onset, vitamin B6-dependent 1 trial
- Pyridoxine-dependent epilepsy caused by ALDH7A1 mutant 0 trials
Pyridoxal phosphate-responsive seizures 2 trials

Including sub-types (4) Tagged with Inborn disorder of pyridoxine metabolism (0)

Trials to join now! 1 Not yet finished but already full! 1 Completed 2

Newborn screening study aims to catch rare diseases at birth

Diagnosis Ongoing

This study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…

Sponsor: RTI International • Aim: Diagnosis

Last updated Jul 03, 2026 00:00 UTC

Inborn disorder of pyridoxine metabolism

Where it sits in the disease tree

Newborn screening study aims to catch rare diseases at birth